Variant report

Variant	nsv551959
Chromosome Location	chr10:96499710-96557336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
2	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
3	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
4	CEBPB	chr10:96520913-96521049	A549	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
5	CEBPB	chr10:96520862-96521099	HepG2	liver:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
6	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
7	CEBPB	chr10:96520891-96521011	IMR90	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
8	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
11	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
12	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
16	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
17	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
21	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
22	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
25	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
26	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
27	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
28	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
29	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
30	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
31	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
32	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
33	NR3C1	chr10:96507806-96508040	A549	lung:	n/a	chr10:96507892-96507906
34	NR3C1	chr10:96507795-96507991	A549	lung:	n/a	chr10:96507892-96507906
35	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
36	NR3C1	chr10:96507640-96508067	A549	lung:	n/a	chr10:96507892-96507906
37	POLR2A	chr10:96540283-96540416	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr10:96517925-96517936	MCF-7	breast:	n/a	n/a
39	POLR2A	chr10:96531769-96531782	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:96535019-96535071	A549	lung:	n/a	n/a
41	POLR2A	chr10:96521694-96521791	Gliobla	brain:	n/a	n/a
42	POLR2A	chr10:96523762-96523895	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:96546589-96546708	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr10:96512941-96513075	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr10:96512025-96512058	A549	lung:	n/a	n/a
46	POLR2A	chr10:96512093-96512164	A549	lung:	n/a	n/a
47	SPI1	chr10:96549927-96550192	GM12878	blood:	n/a	n/a
48	SPI1	chr10:96532136-96532291	K562	blood:	n/a	n/a
49	STAT3	chr10:96505694-96505767	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr10:96530184-96530295	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96521086-96521136	CMK	blood:	n/a
2	chr10:96521086-96521136	CMK	blood:	n/a
3	chr10:96521086-96521136	HL-60	blood:	n/a
4	chr10:96523347-96523397	A549	lung:	n/a
5	chr10:96523248-96523298	NHDF-neo	bronchial:	n/a
6	chr10:96521086-96521136	HCPEpiC	choroid plexus:	n/a
7	chr10:96521086-96521136	GM12891	blood:	n/a
8	chr10:96523248-96523298	CMK	blood:	n/a
9	chr10:96523248-96523298	AG04450	lung:	fetal
10	chr10:96521086-96521136	AG04449	skin:	fetal
11	chr10:96521086-96521136	SKMC	muscle:	n/a
12	chr10:96523347-96523397	HRPEpiC	eye:	n/a
13	chr10:96521086-96521136	NB4	blood:	n/a
14	chr10:96523248-96523298	HAEpiC	amniotic membrane:	n/a
15	chr10:96523347-96523397	Caco-2	colon:	n/a
16	chr10:96522433-96522483	AoSMC	blood vessel:	n/a
17	chr10:96522433-96522483	HNPCEpiC	eye:	n/a
18	chr10:96521086-96521136	SK-N-SH	brain:	n/a
19	chr10:96523347-96523397	PANC-1	pancreas:	n/a
20	chr10:96523248-96523298	GM12891	blood:	n/a
21	chr10:96521152-96521202	HCM	heart:	n/a
22	chr10:96521152-96521202	AG09309	skin:	n/a
23	chr10:96521086-96521136	AG09319	gingival:	n/a
24	chr10:96523248-96523298	NT2-D1	testis:	n/a
25	chr10:96523248-96523298	NB4	blood:	n/a
26	chr10:96522433-96522483	MCF-7	breast:	n/a
27	chr10:96522433-96522483	HCPEpiC	choroid plexus:	n/a
28	chr10:96523347-96523397	HCPEpiC	choroid plexus:	n/a
29	chr10:96521086-96521136	IMR90	lung:	fetal
30	chr10:96521152-96521202	SKMC	muscle:	n/a
31	chr10:96523347-96523397	SK-N-MC	brain:	n/a
32	chr10:96522433-96522483	BJ	skin:	n/a
33	chr10:96523347-96523397	HUVEC	blood vessel:	n/a
34	chr10:96521152-96521202	NT2-D1	testis:	n/a
35	chr10:96521086-96521136	SK-N-SH_RA	brain:	n/a
36	chr10:96523248-96523298	GM12878	blood:	n/a
37	chr10:96521086-96521136	HEK293	kidney:	embryo
38	chr10:96522433-96522483	HAEpiC	amniotic membrane:	n/a
39	chr10:96521086-96521136	HepG2	liver:	n/a
40	chr10:96523347-96523397	H1-hESC	embryonic stem cell:	embryo
41	chr10:96523248-96523298	SAEC	small airway:	n/a
42	chr10:96523347-96523397	SAEC	small airway:	n/a
43	chr10:96521152-96521202	SK-N-SH_RA	brain:	n/a
44	chr10:96521152-96521202	HepG2	liver:	n/a
45	chr10:96523248-96523298	HRCEpiC	kidney:	n/a
46	chr10:96523347-96523397	ECC-1	luminal epithelium:	n/a
47	chr10:96521152-96521202	GM12892	blood:	n/a
48	chr10:96522433-96522483	NHDF-neo	bronchial:	n/a
49	chr10:96522433-96522483	T-47D	breast:	n/a
50	chr10:96521086-96521136	ovcar-3	ovarian:	n/a

Variant related genes	Relation type
MTND4P19	TF binding region
CYP2C19	TF binding region
MTND4P19	CpG island
CYP2C19	CpG island

Extended variants
information (count: 2844 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2844 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1409651	chr10:96499710-96499711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541377086	chr10:96499722-96499723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561296691	chr10:96499760-96499761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530122556	chr10:96499767-96499768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1926710	chr10:96499787-96499788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540927190	chr10:96499788-96499789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560313960	chr10:96499800-96499801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1409650	chr10:96499813-96499814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs368154218	chr10:96499833-96499834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1926709	chr10:96499854-96499855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563766121	chr10:96499860-96499861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115776329	chr10:96499882-96499883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552376534	chr10:96499914-96499915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369094868	chr10:96499915-96499916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1409649	chr10:96499924-96499925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs144368127	chr10:96499927-96499928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10882494	chr10:96499931-96499932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1926708	chr10:96499944-96499945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74152352	chr10:96500010-96500011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs568055903	chr10:96500015-96500016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77662201	chr10:96500045-96500046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78748692	chr10:96500068-96500069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71031594	chr10:96500072-96500073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556579135	chr10:96500079-96500080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553885625	chr10:96500081-96500082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1926707	chr10:96500106-96500107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374821915	chr10:96500112-96500113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114648095	chr10:96500135-96500136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77573124	chr10:96500153-96500154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571685695	chr10:96500162-96500163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572562727	chr10:96500189-96500190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541662378	chr10:96500191-96500192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561417939	chr10:96500220-96500221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148711764	chr10:96500262-96500263	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34117282	chr10:96500263-96500264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575246792	chr10:96500282-96500283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4300333	chr10:96500283-96500284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11188068	chr10:96500286-96500287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570648111	chr10:96500328-96500329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539676824	chr10:96500348-96500349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116947952	chr10:96500350-96500351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12416057	chr10:96500391-96500392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148797516	chr10:96500449-96500450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532626488	chr10:96500464-96500465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12412034	chr10:96500473-96500474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11188069	chr10:96500482-96500483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193271277	chr10:96500483-96500484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4638245	chr10:96500563-96500564	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs143554878	chr10:96500588-96500589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59077396	chr10:96500622-96500623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96447200-96504800	Weak transcription	Stomach Mucosa	stomach
2	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:96498800-96500200	Weak transcription	Liver	Liver
5	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:96500200-96500800	Strong transcription	Liver	Liver
7	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
8	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr10:96501000-96501400	Strong transcription	Liver	Liver
11	chr10:96501400-96502000	Weak transcription	Liver	Liver
12	chr10:96502000-96503600	Strong transcription	Liver	Liver
13	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr10:96503600-96504400	Genic enhancers	Liver	Liver
16	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr10:96504400-96505000	Weak transcription	Liver	Liver
18	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
20	chr10:96505000-96506400	Enhancers	Liver	Liver
21	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
22	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
23	chr10:96506400-96507600	Enhancers	A549	lung
24	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
25	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
26	chr10:96507600-96508000	Flanking Active TSS	A549	lung
27	chr10:96508000-96509600	Enhancers	Liver	Liver
28	chr10:96509600-96517400	Weak transcription	Liver	Liver
29	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
31	chr10:96511800-96512200	Enhancers	Placenta	Placenta
32	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
33	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
36	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:96517600-96518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr10:96517600-96518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:96517800-96518200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr10:96517800-96518200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr10:96517800-96518200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr10:96518000-96518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:96518200-96518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr10:96518200-96519600	Weak transcription	Liver	Liver
47	chr10:96519200-96519400	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:96519600-96520800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:96519600-96521400	Enhancers	Liver	Liver
50	chr10:96520800-96521400	Enhancers	Duodenum Mucosa	Duodenum

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